Perceived burden in dealing with different rare diseases: a qualitative focus group study.

BMJ Open. 2019 12 29;9(12):e033353

Authors: Uhlenbusch N, Löwe B, Depping MK

Abstract
OBJECTIVES: There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions.
DESIGN: A qualitative focus group study.
SETTING: In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany.
PARTICIPANTS: Individuals with neurofibromatosis type 1 (n=4), primary sclerosing cholangitis (n=5), pulmonary arterial hypertension (n=4) and Marfan syndrome (n=5).
RESULTS: We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. While medical problems differed widely between the diagnostic groups, patients with different conditions independently reported many common problems including psychological burden, constraints in professional, personal and daily life, stigmatisation and others lacking understanding. Shared problems pertaining to the healthcare system seem related to the rarity of the conditions (eg, limited access to adequate care, lack of knowledge).
CONCLUSIONS: Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources.

PMID: 31888936 [PubMed - indexed for MEDLINE]

8 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/12/01

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

[Sclerosing pneumocytoma: A rare and benign tumor].

Rev Mal Respir. 2020 Nov;37(9):743-747

Authors: Hassani Y, Ramla S, Zouak A, Ahouansou N, Beltramo G, Pages PB, Georges M, Bonniaud P

Abstract
INTRODUCTION: Sclerosing pneumocytoma is a benign and rare lung tumor affecting epithelial cells. In most cases, patients are asymptomatic and the diagnosis is made on an X ray or a CT scan performed for other enquiry. Sex ratio favors women. Epidemiological studies report that middle-aged Asian women are more frequently affected. Radiological investigations find a solitary nodule or a mass with peripheric localization. When performed, histological analysis shows a tumor composed of at least two of the four following architectures: papillary, sclerosing, hemangiomatous and solid, with two types of cells that can be round or cubic cells.
CASES REPORT: We report two cases of multiple sclerosing pneumocytoma in two caucasien men. The first patient was asymptomatic, the second complain from moderate dyspnea. A wedge resection was performed in both, allowing diagnosis. Anatomopathology revealed respectively a predominant sclerosing and solid architecture and a sclerosing and papillary architecture. There was no progression of the other concomitant nodules after three years follow-up.
CONCLUSION: Pneumocytoma is a benign, slow-growing tumor with good prognosis.

PMID: 32868166 [PubMed - indexed for MEDLINE]

Rare genetic diseases affecting skeletal development and oral health disparities among children and adolescents: a pathway analysis.

Int Dent J. 2020 Dec;70(6):469-476

Authors: Vettore MV, Borges-Oliveira AC, Prado HV, Lamarca GA, Owens J

Abstract
BACKGROUND: To examine the relationships of rare genetic diseases affecting skeletal development, socio-demographic characteristics, and oral health-related behaviours with dental clinical measures in children and adolescents.
METHODS: A cross-sectional study paired by age, gender and social class included 61 children and adolescents with osteogenesis imperfecta (n = 40) or mucopolysaccharidoses (n = 21) and those without genetic rare diseases (n = 60). Participants were selected at two referral hospitals for rare genetic diseases in the city of Belo Horizonte, Brazil. Caregivers completed a questionnaire to obtain age, gender, caregiver's schooling, social class, patterns of dental attendance and duration of breastfeeding. Oral hygiene, dental caries, dental anomalies and malocclusion were assessed through dental examinations. The relationships between variables were estimated through Pathway analysis using the maximum likelihood method.
RESULTS: Rare genetic diseases affecting skeletal development were directly associated with dental caries (β = 0.22), dental anomalies (β = 0.36) and malocclusion (β = 0.29). They were also inversely linked to a preventive pattern of dental attendance (β = -0.25). Rare genetic diseases affecting skeletal development were associated with poor oral hygiene (β = 0.28) and shorter breastfeeding duration (β = -0.21). Rare genetic diseases affecting skeletal development were linked indirectly with dental caries, a reduced pattern of dental attendance and poor oral hygiene (β = 0.43). Patterns of dental attendance mediated the link between rare genetic diseases affecting skeletal development and malocclusion (β = -0.05).
CONCLUSION: Rare genetic diseases affecting skeletal development were associated with poor oral health. Patterns of dental attendance and poor oral hygiene mediated the link between rare genetic diseases affecting skeletal development and dental clinical measures.

PMID: 32681533 [PubMed - indexed for MEDLINE]

Hyaline fibromatosis syndrome: A case report.

Oral Surg Oral Med Oral Pathol Oral Radiol. 2020 Dec;130(6):e328-e335

Authors: Pereira TDSF, Sales JF, Travassos DV, Lanza CR, Castro WH, Gomes CC, Fonseca FP, Silva TA, Gomez RS

Abstract
Hyaline fibromatosis syndrome (HFS) is a rare monogenic disease inherited in an autosomal recessive pattern and characterized by hyaline deposits on the skin, mucosa, and multiple organs; osteoporosis; and joint contractures. This progressive condition is caused by mutations in the gene encoding the anthrax toxin receptor 2 protein (ANTXR2). HFS is a disabling disease, and patients suffer from progressive pain and disfiguring symptoms. There are few published case reports detailing oral findings in patients with this condition. The present case report describes a 4-year-old female patient who showed severe manifestations of HFS, emphasizing the oral manifestations, the histopathologic aspects of HFS, the molecular pathogenesis, and the interdisciplinary management of patients affected by this condition.

PMID: 32771412 [PubMed - indexed for MEDLINE]

Successful management of emphysematous gastritis with invasive gastric mucormycosis.

BMJ Case Rep. 2020 Feb 20;13(2):

Authors: Sharma D

Abstract
The present manuscript reports two extremely rare cases of coexisting emphysematous gastritis with gastric mucormycosis. The cases were managed successfully, considering the high mortality associated with both conditions independently. The aim of the manuscript is to elucidate the importance of prompt diagnosis, early surgical intervention for source control and concomitant application of antifungal therapy for a favourable outcome.

PMID: 32086323 [PubMed - indexed for MEDLINE]

6 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/25

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

7 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/24

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

PDE10A inhibition reduces the manifestation of pathology in DMD zebrafish and represses the genetic modifier PITPNA.

Mol Ther. 2020 Nov 19;:

Authors: Lambert MR, Spinazzola JM, Widrick JJ, Pakula A, Conner JR, Chin JE, Owens JM, Kunkel LM

Abstract
Duchenne Muscular Dystrophy (DMD) is a severe genetic disorder caused by mutations in the DMD gene. Absence of dystrophin protein leads to progressive degradation of skeletal and cardiac function and leads to premature death. Over the years, zebrafish have been increasingly used for studying DMD and are a powerful tool for drug discovery and therapeutic development. In our study, a birefringence screening assay led to identification of PDE10A inhibitors that reduced the manifestation of dystrophic muscle phenotype in dystrophin-deficient sapje-like zebrafish larvae. PDE10A has been validated as a therapeutic target by pde10a morpholino-mediated reduction in muscle pathology and improvement in locomotion, muscle, and vascular function as well as long-term survival in sapje-like larvae. PDE10A inhibition in zebrafish and DMD patient-derived myoblasts were also associated with reduction of PITPNA expression that has been previously identified as a protective genetic modifier in two exceptional dystrophin-deficient GRMD dogs that escaped the dystrophic phenotype. The combination of a phenotypic assay and relevant functional assessments in the sapje-like zebrafish enhances the potential for the prospective discovery of DMD therapeutics. Indeed, our results suggest a new application for a PDE10A inhibitor as a potential DMD therapeutic to be investigated in a mouse model of DMD.

PMID: 33221436 [PubMed - as supplied by publisher]

[Acute liver failure-The importance of rapid diagnostics and early initiation of treatment].

Internist (Berl). 2020 Nov;61(11):1151-1162

Authors: Busch M, Wedemeyer HH

Abstract
Acute liver failure (ALF) is a rare disease with high mortality. It is defined as coagulopathy and encephalopathy in a person with a previously healthy liver. The etiology of ALF is a decisive prognostic factor and varies depending on the country of origin of the patient. Although in many countries the main triggers are hepatotropic viruses, in western industrial countries toxic medicinal causes and autoimmune phenomena predominate. The course of ALF runs through various phases. The complete picture of ALF can mostly no longer be casually treated but necessitates in particular timely contact with a transplantation center. If a causal treatment exists, the effectiveness is greatly dependent on the timing of initiation. In the best case scenario this can completely avoid liver damage. In the complete picture of ALF the main focus is on the intensive medical care of a threatening multiorgan failure. In this context new standards of treatment were established by studies on plasmapheresis.

PMID: 33006624 [PubMed - indexed for MEDLINE]

An Ex Vivo Choroid Sprouting Assay of Ocular Microvascular Angiogenesis.

J Vis Exp. 2020 08 06;(162):

Authors: Tomita Y, Shao Z, Cakir B, Kotoda Y, Fu Z, Smith LEH

Abstract
Pathological choroidal angiogenesis, a salient feature of age-related macular degeneration, leads to vision impairment and blindness. Endothelial cell (EC) proliferation assays using human retinal microvascular endothelial cells (HRMECs) or isolated primary retinal ECs are widely used in vitro models to study retinal angiogenesis. However, isolating pure murine retinal endothelial cells is technically challenging and retinal ECs may have different proliferation responses than choroidal endothelial cells and different cell/cell interactions. A highly reproducible ex vivo choroidal sprouting assay as a model of choroidal microvascular proliferation was developed. This model includes the interaction between choroid vasculature (EC, macrophages, pericytes) and retinal pigment epithelium (RPE). Mouse RPE/choroid/scleral explants are isolated and incubated in growth-factor-reduced basal membrane extract (BME) (day 0). Medium is changed every other day and choroid sprouting is quantified at day 6. The images of individual choroid explant are taken with an inverted phase microscope and the sprouting area is quantified using a semi-automated macro plug-in to the ImageJ software developed in this lab. This reproducible ex vivo choroidal sprouting assay can be used to assess compounds for potential treatment and for microvascular disease research to assess pathways involved in choroidal micro vessel proliferation using wild type and genetically modified mouse tissue.

PMID: 32831307 [PubMed - indexed for MEDLINE]

[Is faster diagnosis of rare diseases feasible?]

Ned Tijdschr Geneeskd. 2020 04 30;164:

Authors: Thijs A, Linthorst GE

Abstract
Not only rare diseases are uncommon. There are also rare presentations of common diseases, not to mention rare side effects of infrequently prescribed or new drugs. Not all of these rare disease presentations have a genetic causal component. Additional (genetic or non-genetic) ancillary diagnostic tests, in which some of the inevitably occurring chance findings will present us with new problems, are not the solution for this problem, nor are disease or therapy oriented centres of expertise. The solution should be sought in pattern recognition; not by the individual physician, but through collaboration of physicians who take the time to give meaning to carefully obtained clinical parameters in individual patients. The size and composition of such a - often ad hoc - partnership should be adapted to each individual situation.

PMID: 32395955 [PubMed - indexed for MEDLINE]

Bouveret´s syndrome: a rarest complication of cholelithiasis. A case report and literature review.

Cir Cir. 2020;88(1):95-99

Authors: Navarro-Del Río E, Hernández-Zúñiga JF

Abstract
Bouveret´s syndrome refers to the condition of gastric outlet obstruction caused by the impaction of a large gallstone into the duodenum after passage through a cholecystoduodenal fistula. Many endoscopic and surgical techniques have been described in the management of this syndrome, however the morbidity and mortality are still very high. We present the case of a 67-year-old female patient with Bouveret´s syndrome, with successful resolution with surgical treatment after two failed endoscopic treatments.

PMID: 31967610 [PubMed - indexed for MEDLINE]

12 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/20

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

13 new pubmed citations were retrieved for your search. Click on the search hyperlink below to display the complete search results:

"Rare Diseases"[Mesh] OR "orphan disease"

These pubmed results were generated on 2020/11/18

PubMed comprises more than millions of citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to full-text content from PubMed Central and publisher web sites.

Multisystem involvement Langerhans cell histiocytosis in an adult: A case report.

World J Clin Cases. 2020 Oct 26;8(20):4966-4974

Authors: Wang BB, Ye JR, Li YL, Jin Y, Chen ZW, Li JM, Li YP

Abstract
BACKGROUND: Langerhans cell histiocytosis (LCH) is a rare condition wherein Langerhans cells proliferate abnormally, adversely impacting organs including lymph nodes, bones, skin, lungs, and pituitary gland. The LCH disease course varies widely among patients from a self-limiting condition to one that progresses rapidly and culminates in death. It is uncommon for multisystem LCH to be observed in adults. Herein we describe a woman suffering from multi-system LCH involvement.
CASE SUMMARY: A 37-year old Chinese woman was admitted to the hospital in June 2019 suffering from dyspnea that had progressed over the course of 5 years. Her medical history included: central diabetes insipidus (DI) that had been treated via radiotherapy, desmopressin acetate, and bromocriptine; bilateral pneumothorax with two surgeries having been performed to remove bullae; and autoimmune hepatitis that had been unsuccessfully treated using a combination of methylprednisolone and mycophenolate mofetil. A chest computed tomography (CT) scan revealed the presence of multiple pulmonary cysts of varying sizes. We re-analyzed right pulmonary bullae samples that had been removed in 2014, performed a systematic 18F-FDG PET/CT analysis, and convened a multidisciplinary medical team to diagnose and treat this patient. As a result, we were able to eventually diagnose this patient with LCH that was not associated with BRAF-V600E mutations.
CONCLUSION: We hope to emphasize the importance of systemic evaluation and of cooperation between multidisciplinary physicians with the goal of improving awareness and detection of this orphan disease.

PMID: 33195668 [PubMed]

[Primary mediastinal huge combined liposarcoma: a rare case riport].

Zhonghua Zhong Liu Za Zhi. 2020 Sep 23;42(9):777-778

Authors: Xu H, Guo JR, Cheng SS, Ma GZ

PMID: 32988162 [PubMed - indexed for MEDLINE]

Rare Disease Patients as Potential Organ Donors.

Transplant Proc. 2020 Jun;52(5):1522-1524

Authors: Peritore D, Trapani S, La Rocca V, Oliveti A, Fiaschetti P, Montemurro A, Lombardini L, Cardillo M

Abstract
BACKGROUND: Rare diseases (RDs) are a heterogeneous group of pathologies, which, when present in a donor, with their anatomic or functional deficiencies, may put the recipient at risk. The aim of our work is to analyze the incidence of RDs in our donors to support transplant experts in the evaluation of these organs.
METHODS: We retrospectively assessed the incidence of RDs in donors from July 2017 to June 2019, along with the risk attributed, the number of transplanted organs, and the follow-up results of the recipients.
RESULTS: Over a 24-month period, we had 19 donors with RDs. Of those, the organs of 4 donors were rejected before the risk assessment, the organs of 4 other donors were deemed an unacceptable risk, the organs of 4 more donors were rejected by transplant centers, and the organs of 7 donors were accepted with 16 organs ultimately transplanted (2 hearts, 3 livers, and 11 kidneys). Three of the recipients died of causes not related to the RDs. Thirteen of the recipients are still alive with a functioning organ with an average follow-up of 9 months.
CONCLUSIONS: Although the evaluation of the results is influenced by the limited follow-up period, the use of donors with RDs has proved safe. One of the critical issues encountered in the evaluation process was the impossibility of carrying out genetic and histologic investigations for each organ in urgency. Moreover, the heterogeneity of RDs and the lack of solid literature data require, for the purpose of assessing the level of risk, a specific assessment of individual cases. To overcome these limitations, a group of experts was set up at the Superior Health Council, who drafted a reference document, which allowed for the assessment of the suitability and risk level of donors with the most frequent RDs.

PMID: 32299708 [PubMed - indexed for MEDLINE]

Rare complication of COVID-19 presenting as isolated headache.

BMJ Case Rep. 2020 Oct 29;13(10):

Authors: Asif R, O' Mahony MS

Abstract
An 18-year-old man presented with persistent isolated headache 2 weeks after recovering from acute COVID-19 illness. Extensive cerebral venous sinus thrombosis (CVST) was detected on CT venogram despite him having no other thrombotic risk factors. CVST can complicate COVID-19. A high index of clinical suspicion is warranted as it can often have a subtle presentation with paucity of neurological symptoms.

PMID: 33122242 [PubMed - indexed for MEDLINE]

Guillain-Barré syndrome after COVID-19 in Japan.

BMJ Case Rep. 2020 Oct 29;13(10):

Authors: Hirayama T, Hongo Y, Kaida K, Kano O

Abstract
We report the first case of Guillain-Barré syndrome (GBS) associated with SARS-CoV-2 infection in Japan. A 54-year-old woman developed neurological symptoms after SARS-CoV-2 infection. We tested for various antiganglioside antibodies, that had not been investigated in previous cases. The patient was diagnosed with GBS based on neurological and electrophysiological findings; no antiganglioside antibodies were detected. In previous reports, most patients with SARS-CoV-2-infection-related GBS had lower limb predominant symptoms, and antiganglioside antibody tests were negative. Our findings support the notion that non-immune abnormalities such as hyperinflammation following cytokine storms and microvascular disorders due to vascular endothelial damage may lead to neurological symptoms in patients with SARS-CoV-2 infection. Our case further highlights the need for careful diagnosis in suspected cases of GBS associated with SARS-CoV-2 infection.

PMID: 33122241 [PubMed - indexed for MEDLINE]